Sapientia: one step closer to fast, definitive diagnosis of rare genetic diseases

Definitive diagnosis of children with rare genetic diseases may soon take minutes rather than years following the announcement that Congenica, the genome discovery and diagnostics company, has gained up to £1M seed funding from Cambridge Innovation Capital to scale up its SapientiaTM analysis platform to support a clinical diagnostic service.

Sapientia is based on technology developed by scientists at the Wellcome Trust Sanger Institute (WTSI) that has been independently verified by Genomics England.

Dr Tom Weaver, Congenica CEO says: “Sapientia is an analysis platform that allows genome scale DNA sequence data to be presented within a clinically actionable diagnostic report.

“Our ambition is for Sapientia to be part of a front-line service that supports clinicians to deliver a faster more robust diagnosis of rare genetic diseases. This would reduce the anxiety of parents and reduce cost for healthcare providers.”

Our ambition is for Sapientia to be part of a front-line service that supports clinicians to deliver a faster more robust diagnosis of rare genetic diseases. This would reduce the anxiety of parents and reduce cost for healthcare providers.

 Dr Tom Weaver

Minister for Life Sciences, George Freeman MP says: “This investment from Cambridge Innovation Capital will improve our understanding of how disease really works, help to diagnose patients quicker and will continue to create jobs in the eastern region. We want to lead the world in genomic medicine to develop more personalised treatments that can make a real difference to NHS patients, especially in rare disease and cancer.”

The technology underpinning Sapientia is currently being used in the Wellcome Trust Sanger Institute’s groundbreaking “Deciphering Developmental Disorders” (DDD) research initiative, which over the past five years has provided proof of concept and demonstrated clinical utility through the accurate diagnosis of hundreds of children for whom current testing had failed to provide an answer.

Congenica was established on the Wellcome Trust Genome Campus earlier this year by six world leading geneticists and bioinformaticians. This includes two Wellcome Trust Sanger Institute scientists – genomics pioneer Dr Richard Durbin, who led the international 1000 Genomes Project and the UK10K Genome Project, and Dr Matthew Hurles, who has a major leadership role in the DDD study – as well as Professor Phil Beales, Honorary Consultant in Clinical Genetics at Great Ormond Street Hospital (GOSH) and lead on Personalised Medicine for UCL.

Congenica has licensed the DDD technology and knowhow from the Sanger Institute, the first exclusive commercial deal of its kind for the institute.

Whole genome analysis (WGA) has the potential to transform diagnosis services for families with rare genetic diseases but the volume and complexity of the arising data and the lack of sophisticated tools to analyse and interpret the information has until now limited the role that WGA can play in the clinic.

Sapientia is a unique clinical decision support tool that addresses this problem. It is able to identify, annotate and interpret whole genome DNA sequence data and, in a significant proportion of patients, pinpoint a single gene change that is responsible for a patient’s disease, based on a growing knowledge base of clinically significant variants.

The potential of the company to revolutionise whole genomic analysis of developmental disease was appreciated by Dr Robert Tansley, Investment Director for Life Sciences of Cambridge Innovation Capital (CIC), an investment company established with the support of the University of Cambridge, Cambridge Enterprise and leading institutional investors to back innovation in the Cambridge cluster.

Dr Tansley says: “There are currently 200,000 genetic tests performed each year in the UK alone just for rare diseases. The current technology used in these labs looks at single genes or small panels of genes. Although next generation sequencing is now available to look at all the genes at once, a big obstacle to adoption is the lack of available tools to analyse and annotate this information.

“We see Congenica’s technology as a powerful enabler that can realise the potential for a radically different type of genome analysis service. Our funding will allow Congenica to scale its technology, which has been independently validated by Genomics England, to offer a definitive diagnostic service.”

Dr Weaver adds: “The seed funding from CIC will allow us to work closely with clinicians, geneticists and the diagnostic service providers to get a robust set of tools into regular clinical use, backed up by an international knowledge base that is essential for definitive diagnosis.”

Congenica’s technology will improve diagnosis of rare genetic diseases in the near term but, importantly, will also provide new insights for future screening and treatment of both rare and common diseases. Its potential to pinpoint the genetic causes of disease and improve the performance of therapeutic R&D has already attracted interest from global drug discovery companies.

CIC provides long-term investment to help build large international technology companies, reversing the trend where companies are bought before they fulfill their potential.

Dr Weaver continues: “Cambridge is an exciting place to be for biomedical research and development, the Genome Campus is second to none and we have access to the scientists on the Cambridge Biomedical Campus who are leading the world in this area.

“Our technology will provide a knowledge repository for sharing information about rare genetic diseases and this gives hope for the development of new types of treatment in the future.”

 

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